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Three‐dimensional MR imaging of brain surface anomalies in fukuyama‐type congenital muscular dystrophy
Author(s) -
Toda Tatsushi,
Watanabe Toshiaki,
Matsumura Kiichiro,
Sunada Yoshihide,
Yamada Hiroki,
Nakano Imaharu,
Mannen Toru,
Kanazawa Ichiro,
Shimizu Teruo
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880180506
Subject(s) - medicine , white matter , congenital muscular dystrophy , muscular dystrophy , neuroimaging , magnetic resonance imaging , autopsy , pachygyria , pathology , anatomy , radiology , lissencephaly , biology , psychiatry , biochemistry , gene
Fukuyama‐type congental muscular dystrophy (FCMD), the second most common childhood muscular dystrophy in Japan, is characterized by the association with severe brain anomalies such as pachygyria and focal interhemispheric fusion. Conventional imaging techniques such as X‐ray CT scan and MRI are ineffective for visualization of these brain surface anomalies. Here we investigated the efficacy of three‐dimensional (3‐D) reconstruction of brain surface MR images for the detection of brain anomalies in FCMD patients. 3‐D brain surface MR images clearly visualized anomalies of cerebral gyrus such as pachygyria, as well as focal interhemispheric fusion. In addition, reconstructed horizontal images visualized structural derangement such as abnormal protrusion of white matter into gray matter. MR image abnormalities were confirmed by autopsy in 1 patient. These abnormalities were never observed in Duchenne muscular dystrophy (DMD) patients. Our results indicate the efficacy of the present method for the differential diagnosis between FCMD and DMD with severe mental retardation, which is essential for the genetic study to identify the causative gene of FCMD. © 1995 John Wiley & Sons, Inc.